ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3768C>G (p.Tyr1256Ter)

dbSNP: rs878855032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234220 SCV000290344 pathogenic CHARGE association 2016-01-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Truncating variants in CHD7 are known to be pathogenic. This particular truncation has been reported in the literature in a CHARGE syndrome patient (PMID: 21158681). This sequence change creates a premature translational stop signal at codon 1256 (p.Tyr1256*). It is expected to result in an absent or disrupted protein product.

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